Publications:

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Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences

Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ

Publication Date: 2023-04-18

Variant appearance in text: PSEN1: L166V

PubMed Link: 37108607

Variant Present in the following documents:

• ijms-24-07446.pdf

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu166Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Genetic landscape of early-onset dementia in Hungary.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Csaban, Dora D; Illes, Anett A; Renata, Toth-Bencsik TB; Balicza, Peter P; Pentelenyi, Klara K; Molnar, Viktor V; Gezsi, Andras A; Grosz, Zoltan Z; Gal, Aniko A; Kovacs, Tibor T; Klivenyi, Peter P; Molnar, Maria Judit MJ

Publication Date: 2022-09

Variant appearance in text: PSEN1: L166V

PubMed Link: 35752680

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6168.pdf

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An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

The Journal Of Experimental Medicine

Zhang, Xulun X; Zhang, Can Martin CM; Prokopenko, Dmitry D; Liang, Yingxia Y; Zhen, Sherri Y SY; Weigle, Ian Q IQ; Han, Weinong W; Aryal, Manish M; Tanzi, Rudolph E RE; Sisodia, Sangram S SS

Publication Date: 2021-06-07

Variant appearance in text: PS1: L166V

PubMed Link: 33822840

Variant Present in the following documents:

• JEM_20210313.pdf

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The Regulation of Astrocytic Glutamate Transporters in Health and Neurodegenerative Diseases.

International Journal Of Molecular Sciences

Todd, Alison C AC; Hardingham, Giles E GE

Publication Date: 2020-12-17

Variant appearance in text: PSEN1: L166V

PubMed Link: 33348528

Variant Present in the following documents:

• Main text

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Early-Onset Dementia in War Veterans: Brain Polypathology and Clinicopathologic Complexity.

Journal Of Neuropathology And Experimental Neurology

Iacono, Diego D; Lee, Patricia P; Edlow, Brian L BL; Gray, Nichelle N; Fischl, Bruce B; Kenney, Kimbra K; Lew, Henry L HL; Lozanoff, Scott S; Liacouras, Peter P; Lichtenberger, John J; Dams-O'Connor, Kristen K; Cifu, David D; Hinds, Sidney R SR; Perl, Daniel P DP

Publication Date: 2020-02-01

Variant appearance in text: PSEN1: L166V

PubMed Link: 31851313

Variant Present in the following documents:

• nlz122.pdf

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Early Stage Glycosylation Biomarkers in Alzheimer's Disease.

Medicines (Basel, Switzerland)

Regan, Patricia P; McClean, Paula L PL; Smyth, Thomas T; Doherty, Margaret M

Publication Date: 2019-09-03

Variant appearance in text: PS1: L166V

PubMed Link: 31484367

Variant Present in the following documents:

• medicines-06-00092.pdf

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: L166V

PubMed Link: 31391004

Variant Present in the following documents:

• 12883_2019_Article_1419.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: L166V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: PSEN1: L166V

PubMed Link: 31011484

Variant Present in the following documents:

• ad-10-2-383.pdf

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PSEN1: L166V

PubMed Link: 30510423

Variant Present in the following documents:

• ndt-14-3015.pdf

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A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging

An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: L166V

PubMed Link: 28008242

Variant Present in the following documents:

• cia-11-1817.pdf

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Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Frontiers In Cellular Neuroscience

Calero, Miguel M; Gómez-Ramos, Alberto A; Calero, Olga O; Soriano, Eduardo E; Avila, Jesús J; Medina, Miguel M

Publication Date: 2015

Variant appearance in text: PSEN1: L166V

PubMed Link: 25914626

Variant Present in the following documents:

• Main text
• fncel-09-00138.pdf

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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Chirstopher C; Lord, Jenny J; Turton, James J; Mann, David D; Snowden, Julie J; Neary, David D; Harris, Jeniffer J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J

Publication Date: 2014-10

Variant appearance in text: PSEN1: L166V

PubMed Link: 24880964

Variant Present in the following documents:

• Main text

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: L166V

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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